E-LIB Suche - Ergebnisse für: Yi, Shang

1

A novel variant in NSUN2 causes intellectual disability in ..:

Yang, Qi ; Zhang, Qiang ; Qin, Zailong..
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Novel germline variants in KMT2C in Chinese patients with K..:

Yang, Qi ; Zhang, Qiang ; Yi, Sheng...
Frontiers in Neurology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

A genetic variant in the MAST1 gene is associated with mega..:

Yi, Sheng ; Tang, Xianglian ; Chen, Fei...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024

Link: https://doi.org/10.1002/..

4

Novel variants in TNRC6B cause global developmental delay w..:

Yang, Qi ; Ou, Shan ; Zhou, Xunzhao...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

Link: https://doi.org/10.1002/..

5

A nonsense CC2D1A variant is associated with congenital ano..:

Yi, Sheng ; Tang, Xianglian ; Zhang, Qiang...
Heliyon. 10 (2024) 6 - p. e27946 , 2024

Link: https://doi.org/10.1016/..

6

Clinical and genetic analysis of trichohepatoneurodevelopme..:

Yang, Qi ; Zhou, Xunzhao ; Ling, Yeying...
Heliyon. 10 (2024) 6 - p. e27955 , 2024

Link: https://doi.org/10.1016/..

7

Compound heterozygous WDR19 variants associated with nephro..:

Tang, Xianglian ; Yi, Sheng ; Qin, Zailong...
Heliyon. 10 (2024) 1 - p. e23257 , 2024

Link: https://doi.org/10.1016/..

8

Clinical features and molecular genetic investigation of in..:

Zhang, Qiang ; Yang, Qi ; Luo, Jingsi...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

9

A novel prognostic risk-scoring system based on m5C methyla..:

Wen, Yutong ; Chen, Xiaotong ; Li, Runtong...
Molecular Therapy: Oncology. 32 (2024) 2 - p. 200790 , 2024

Link: https://doi.org/10.1016/..

10

Novel compound heterozygous variants in the RPL3L gene caus..:

Yang, Qi ; Zhang, Qiang ; Qin, Zailong...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

11

Activation of Beta-adrenergic Receptors Upregulates the Sig..:

Xie, Haiting ; Tian, Yueqin ; Li, Zhongli...
Molecular Neurobiology. 61 (2023) 3 - p. 1833-1844 , 2023

Link: https://doi.org/10.1007/..

12

Case report: A de novo NSD2 truncating variant in a child w..:

Yang, Qi ; Gong, Di ; Yi, Shang..
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

13

SYNJ1 rescues motor functions in hereditary and sporadic Pa..:

Tian, Yueqin ; Yi, Shang ; Guo, Wanyun...
Behavioural Brain Research. 452 (2023) - p. 114569 , 2023

Link: https://doi.org/10.1016/..

14

Clinical and molecular analysis of Guangxi patients with Ka..:

Yi, Sheng ; Zhang, Xiaofei ; Yang, Qi...
Heliyon. 9 (2023) 10 - p. e20223 , 2023

Link: https://doi.org/10.1016/..

15

Early onset horizontal gaze palsy and progressive scoliosis..:

Yi, Sheng ; Qin, Zailong ; Zhou, Xunzhao...
Molecular Genetics & Genomic Medicine. 11 (2023) 9 - p. , 2023

Link: https://doi.org/10.1002/..